view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATG14_chr14_55361391_55416830 | 55402927 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0068 | 1 | 336 | 0.0030 | -15 | c.222 others(32): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG16L1_chr2_233246673_233300669 | 233247566 | TGGTTCAG others(8): Show |
T | upstream_gene_variant | MODIFIER | NA19089.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0234 | 1 | 352 | 0.0028 | -15 | c.-42 others(26): Show |
ATG16L1 | ENSG00000085978.22 | transcript | ENST00000392017.9 | protein_coding | 4106 | chr2 | TogoVar | |||||||
ATG2B_chr14_96274195_96368341 | 96314670 | CTGTTTTG others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(296): Show |
a0001a0002a0005others(20): Show | a0001c0002a0001c0003a0001c0005others(32): Show | a0001c0002t0001a0001c0002t0026a0001c0002t0051others(80): Show | a0001c0002t0001g0004 a0001c0002t0001g0019 a0001c0002t0001g0020 others(274): Show |
299 | 336 | 0.8899 | -15 | c.364 others(32): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 23/41 | chr14 | TogoVar | |||||||
ATG3_chr3_112527510_112566962 | 112536920 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00735.hp1 HG01081.hp2 others(63): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0011 others(18): Show |
66 | 71 | 0.9296 | -15 | c.667 others(30): Show |
ATG3 | ENSG00000144848.11 | transcript | ENST00000283290.10 | protein_coding | 9/11 | chr3 | TogoVar | |||||||
ATG4C_chr1_62779132_62870516 | 62869538 | AGTGCATC others(8): Show |
A | downstream_gene_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0298 | 1 | 320 | 0.0031 | -15 | c.*53 others(26): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 4023 | chr1 | TogoVar | |||||||
ATG4D_chr19_10538904_10558418 | 10548003 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02071.hp2 NA18939.hp1 NA18940.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0118 a0001c0001t0001g0119 others(1): Show |
7 | 13 | 0.5385 | -15 | c.835 others(30): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11395939 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 | 1 | 219 | 0.0046 | -15 | c.195 others(36): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11442739 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 49 | 0.0204 | -15 | c.207 others(36): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATIC_chr2_215307059_215354764 | 215331718 | TTTCTGTG others(8): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0103 a0001c0001t0004g0050 a0001c0001t0004g0051 others(1): Show |
4 | 380 | 0.0105 | -15 | c.689 others(30): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38337486 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01943.hp1 | a0005 | a0005c0010 | a0005c0010t0002 | a0005c0010t0002g0096 | 1 | 28 | 0.0357 | -15 | c.363 others(32): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38370448 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG02109.hp2 HG03098.hp1 others(1): Show |
a0001a0003 | a0001c0003a0003c0004a0003c0005 | a0001c0003t0003a0001c0003t0012a0003c0004t0003others(1): Show | a0001c0003t0003g0130 a0001c0003t0012g0007 a0003c0004t0003g0043 others(1): Show |
4 | 26 | 0.1538 | -15 | c.118 others(32): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38376634 | GCTCCCCG others(8): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0154 | 1 | 234 | 0.0043 | -15 | c.118 others(30): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATN1_chr12_6922959_6947321 | 6936728 | ACAGCAGC others(8): Show |
A | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00323.hp2 HG00423.hp2 others(47): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0012t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0015 others(18): Show |
50 | 171 | 0.2924 | -15 | c.149 others(24): Show |
p.Gln others(13): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2082/4702 | 1494/3573 | 498/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ATOSA_chr15_52576321_52684388 | 52597165 | GTTCTATT others(8): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG02886.hp2 HG02922.hp2 others(2): Show |
a0003a0008 | a0003c0004a0008c0021 | a0003c0004t0002a0008c0021t0002 | a0003c0004t0002g0022 a0003c0004t0002g0076 a0003c0004t0002g0082 others(2): Show |
5 | 13 | 0.3846 | -15 | c.264 others(34): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 9/12 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25841657 | CTCACTAT others(8): Show |
C | intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0292 | 1 | 298 | 0.0034 | -15 | c.449 others(34): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25847609 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 9 | 0.1111 | -15 | c.449 others(34): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160755835 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG01123.hp2 HG01496.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0010others(2): Show | a0001c0001t0001g0038 a0001c0001t0001g0051 a0001c0001t0001g0064 others(16): Show |
19 | 219 | 0.0868 | -15 | c.-33 others(36): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160755837 | AAATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01069.hp2 others(20): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0138 others(20): Show |
23 | 200 | 0.1150 | -15 | c.-33 others(36): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160755839 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02083.hp2 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0159 a0001c0001t0003g0102 |
2 | 217 | 0.0092 | -15 | c.-33 others(36): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160823021 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 234 | 0.0043 | -15 | c.-57 others(36): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112803820 | TCTCCTTC others(8): Show |
T | intron_variant | MODIFIER | HG02132.hp2 | a0003 | a0003c0047 | a0003c0047t0001 | a0003c0047t0001g0038 | 1 | 251 | 0.0040 | -15 | c.163 others(32): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182844991 | TTTATTTT others(8): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0256 | 1 | 321 | 0.0031 | -15 | c.705 others(30): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182895112 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0273 | 1 | 101 | 0.0099 | -15 | c.298 others(34): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139742873 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 212 | 0.0047 | -15 | c.303 others(32): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 26/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139742875 | AAATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01258.hp1 HG02027.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0126 a0001c0001t0001g0133 others(6): Show |
9 | 220 | 0.0409 | -15 | c.303 others(32): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 26/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139742877 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00597.hp1 others(73): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(9): Show | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(73): Show |
76 | 220 | 0.3455 | -15 | c.303 others(32): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 26/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139852452 | CGGGGGGG others(8): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG01258.hp1 HG01891.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0026 | a0001c0001t0001g0157 a0001c0001t0001g0167 a0001c0001t0001g0168 others(4): Show |
7 | 67 | 0.1045 | -15 | c.28- others(32): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP13A1_chr19_19640198_19668676 | 19666607 | GTTTTTTT others(8): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01978.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0001a0001c0001t0003a0004c0013t0003 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0038 others(3): Show |
7 | 68 | 0.1029 | -15 | c.-29 others(26): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 2932 | chr19 | TogoVar | |||||||
ATP13A2_chr1_16980958_17016928 | 16988615 | TATTATTA others(8): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0043 | 1 | 364 | 0.0027 | -15 | c.261 others(32): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 23/28 | chr1 | TogoVar | |||||||
ATP13A2_chr1_16980958_17016928 | 16999833 | GGAGGCTG others(8): Show |
G | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0076 | 1 | 364 | 0.0027 | -15 | c.103 others(32): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 11/28 | chr1 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193418121 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG01081.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0004t0008a0002c0003t0001others(2): Show | a0001c0001t0001g0173 a0001c0001t0001g0226 a0001c0001t0001g0245 others(4): Show |
7 | 68 | 0.1029 | -15 | c.284 others(34): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 25/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193546009 | GTGTGTGT others(8): Show |
G | intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0284 | 1 | 300 | 0.0033 | -15 | c.60+ others(30): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP1A1_chr1_116368244_116409774 | 116386126 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA19005.hp1 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0168 |
2 | 95 | 0.0211 | -15 | c.184 others(32): Show |
ATP1A1 | ENSG00000163399.16 | transcript | ENST00000295598.10 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP1A4_chr1_160146603_160191980 | 160180694 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01517.hp1 HG02056.hp1 others(6): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(5): Show | a0001c0001t0001g0056 a0001c0001t0003g0391 a0001c0003t0001g0045 others(6): Show |
9 | 24 | 0.3750 | -15 | c.273 others(32): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP1B2_chr17_7645926_7662770 | 7660810 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01167.hp1 HG02055.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(7): Show | a0001c0001t0001g0001 a0001c0001t0004g0002 a0001c0001t0007g0002 others(8): Show |
19 | 66 | 0.2879 | -15 | c.*49 others(26): Show |
ATP1B2 | ENSG00000129244.9 | transcript | ENST00000250111.9 | protein_coding | 3041 | chr17 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141874779 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 others(53): Show |
56 | 69 | 0.8116 | -15 | c.-20 others(26): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1863 | chr3 | TogoVar | |||||||
ATP2A2_chr12_110276247_110356093 | 110297892 | GGTGTGCC others(8): Show |
G | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 226 | 0.0044 | -15 | c.463 others(32): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | chr12 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10321729 | TATCTATC others(8): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG00741.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0012others(7): Show | a0001c0001t0001g0077 a0001c0001t0001g0157 a0001c0002t0001g0086 others(10): Show |
13 | 288 | 0.0451 | -15 | c.*70 others(26): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 2293 | chr3 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10356074 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 |
a0001 | a0001c0002a0001c0035 | a0001c0002t0004a0001c0035t0006 | a0001c0002t0004g0075 a0001c0035t0006g0143 |
2 | 244 | 0.0082 | -15 | c.213 others(34): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 14/22 | chr3 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203687994 | GATTATTA others(8): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG03098.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0023 | a0001c0001t0002a0001c0001t0022a0001c0023t0060 | a0001c0001t0002g0153 a0001c0001t0022g0136 a0001c0001t0022g0151 others(1): Show |
4 | 73 | 0.0548 | -15 | c.193 others(32): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203704467 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0005 | a0002c0005t0051 | a0002c0005t0051g0178 | 1 | 65 | 0.0154 | -15 | c.109 others(32): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130902284 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01175.hp1 HG02027.hp2 others(21): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0097 a0001c0001t0001g0104 others(21): Show |
24 | 143 | 0.1678 | -15 | c.6+7 others(28): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130903700 | CCCTTTCC others(8): Show |
C | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0338 | 1 | 109 | 0.0092 | -15 | c.6+8 others(28): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130986864 | ATTAGTTT others(8): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02896.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0016 a0001c0001t0001g0079 a0001c0001t0009g0078 |
3 | 313 | 0.0096 | -15 | c.184 others(34): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130986918 | GTTTAGTT others(8): Show |
G | intron_variant | MODIFIER | HG06807.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0117 |
2 | 380 | 0.0053 | -15 | c.184 others(34): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130989245 | CTCAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 |
3 | 380 | 0.0079 | -15 | c.184 others(34): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 20/27 | chr3 | TogoVar | |||||||
ATP2C2_chr16_84363538_84469187 | 84379152 | CCCCTCCC others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG02165.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0001 | a0001c0001t0003g0425 a0001c0003t0001g0288 |
2 | 430 | 0.0047 | -15 | c.99+ others(32): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP5F1A_chr18_46075248_46103296 | 46092180 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0168 | 1 | 49 | 0.0204 | -15 | c.140 others(30): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | |||||||
ATP5ME_chr4_667436_679276 | 669207 | TCCCGCTA others(8): Show |
T | downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 392 | 0.0026 | -15 | c.*32 others(26): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 3228 | chr4 | TogoVar | |||||||
ATP5MF_chr7_99453195_99471167 | 99466717 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | -15 | c.-59 others(24): Show |
ATP5MF | ENSG00000241468.8 | transcript | ENST00000292475.8 | protein_coding | 551 | chr7 | TogoVar |